Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

Weaver syndrome (WS) is a rare congenital disorder characterized by generalized overgrowth, macrocephaly, specific facial features, accelerated bone age, intellectual disability, and susceptibility to cancers. De novo mutations in the enhancer of zeste homolog 2 (EZH2) have been shown to cause WS. E...

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Detalles Bibliográficos
Autores principales: Cohen, Ana S.A., Yap, Damian B., Lewis, M.E. Suzanne, Chijiwa, Chieko, Ramos‐Arroyo, Maria A., Tkachenko, Natália, Milano, Valentina, Fradin, Mélanie, McKinnon, Margaret L., Townsend, Katelin N., Xu, Jieqing, Van Allen, M.I., Ross, Colin J.D., Dobyns, William B., Weaver, David D., Gibson, William T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4832389/
https://www.ncbi.nlm.nih.gov/pubmed/26694085
http://dx.doi.org/10.1002/humu.22946

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